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ARHGEF40 Rho guanine nucleotide exchange factor 40 [ Homo sapiens (human) ]

Gene ID: 55701, updated on 3-May-2020

Summary

Official Symbol
ARHGEF40provided by HGNC
Official Full Name
Rho guanine nucleotide exchange factor 40provided by HGNC
Primary source
HGNC:HGNC:25516
See related
Ensembl:ENSG00000165801 MIM:610018
Gene type
protein coding
RefSeq status
REVIEWED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
SOLO
Summary
This gene encodes a protein similar to guanosine nucleotide exchange factors for Rho GTPases. The encoded protein contains in its C-terminus a GEF domain involved in exchange activity and a pleckstrin homology domain. Alternatively spliced transcripts that encode different proteins have been described. [provided by RefSeq, Mar 2014]
Expression
Ubiquitous expression in spleen (RPKM 21.4), adrenal (RPKM 17.9) and 25 other tissues See more
Orthologs

Genomic context

See ARHGEF40 in Genome Data Viewer
Location:
14q11.2
Exon count:
27
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 14 NC_000014.9 (21061276..21090248)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 14 NC_000014.8 (21538419..21558407)

Chromosome 14 - NC_000014.9Genomic Context describing neighboring genes Neighboring gene NDRG family member 2 Neighboring gene uncharacterized LOC105370398 Neighboring gene ribonuclease A family member 8 Neighboring gene zinc finger protein 219 Neighboring gene transmembrane protein 253 Neighboring gene cytoskeleton associated protein 2 pseudogene 1

Genomic regions, transcripts, and products

Expression

  • Project title: HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ10357

Gene Ontology Provided by GOA

Function Evidence Code Pubs
guanyl-nucleotide exchange factor activity IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
cytosol IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

Preferred Names
rho guanine nucleotide exchange factor 40
Names
Rho guanine nucleotide exchange factor (GEF) 40
protein SOLO

NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

  1. NG_034001.1 RefSeqGene

    Range
    5045..24989
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001278529.2NP_001265458.1  rho guanine nucleotide exchange factor 40 isoform 2

    See identical proteins and their annotated locations for NP_001265458.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon compared to variant 1. The encoded protein (isoform 2) is shorter than isoform 1.
    Source sequence(s)
    AL161668, BC142692, HY010070, HY277017
    UniProtKB/Swiss-Prot
    Q8TER5
    Conserved Domains (4) summary
    cd13242
    Location:530665
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00169
    Location:555653
    PH; PH domain
    cl02488
    Location:72240
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cl02571
    Location:372531
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
  2. NM_001278530.2NP_001265459.1  rho guanine nucleotide exchange factor 40 isoform 3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences compared to variant 1. These differences result in a distinct 5' UTR and cause translation initiation at a downstream start codon compared to variant 1. The encoded protein (isoform 3) is shorter than isoform 1.
    Source sequence(s)
    AL161668, BC144317, HY277017
    Conserved Domains (4) summary
    cd13242
    Location:530665
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00169
    Location:555653
    PH; PH domain
    cl02488
    Location:72240
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cl02571
    Location:372531
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
  3. NM_018071.5NP_060541.3  rho guanine nucleotide exchange factor 40 isoform 1

    See identical proteins and their annotated locations for NP_060541.3

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (1).
    Source sequence(s)
    AK074057, AL161668, BC142692, HY010070, HY277017
    Consensus CDS
    CCDS32041.1
    UniProtKB/Swiss-Prot
    Q8TER5
    Related
    ENSP00000298694.4, ENST00000298694.9
    Conserved Domains (4) summary
    cd13242
    Location:12441379
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00169
    Location:12691367
    PH; PH domain
    cl02488
    Location:786964
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cl02571
    Location:10861245
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000014.9 Reference GRCh38.p13 Primary Assembly

    Range
    21061276..21090248
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_017021434.2XP_016876923.1  rho guanine nucleotide exchange factor 40 isoform X3

  2. XM_017021435.2XP_016876924.1  rho guanine nucleotide exchange factor 40 isoform X5

  3. XM_011536938.3XP_011535240.1  rho guanine nucleotide exchange factor 40 isoform X4

    Conserved Domains (1) summary
    cl15454
    Location:760889
    HrpJ; HrpJ-like domain
  4. XM_011536937.3XP_011535239.1  rho guanine nucleotide exchange factor 40 isoform X1

    Conserved Domains (4) summary
    cd13242
    Location:12441379
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00169
    Location:12691367
    PH; PH domain
    cl02488
    Location:786964
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cl02571
    Location:10861245
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
  5. XM_005267844.3XP_005267901.1  rho guanine nucleotide exchange factor 40 isoform X2

    UniProtKB/Swiss-Prot
    Q8TER5
    Conserved Domains (4) summary
    cd13242
    Location:12441379
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00169
    Location:12691367
    PH; PH domain
    cl02488
    Location:786964
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cl02571
    Location:10861245
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
  6. XM_017021436.2XP_016876925.1  rho guanine nucleotide exchange factor 40 isoform X5

  7. XM_017021437.2XP_016876926.1  rho guanine nucleotide exchange factor 40 isoform X6

    Conserved Domains (4) summary
    cd13242
    Location:530665
    PH_puratrophin-1; Puratrophin-1 pleckstrin homology (PH) domain
    pfam00169
    Location:555653
    PH; PH domain
    cl02488
    Location:72240
    SPEC; Spectrin repeats, found in several proteins involved in cytoskeletal structure; family members include spectrin, alpha-actinin and dystrophin; the spectrin repeat forms a three helix bundle with the second helix interrupted by proline in some sequences; ...
    cl02571
    Location:372531
    RhoGEF; Guanine nucleotide exchange factor for Rho/Rac/Cdc42-like GTPases; Also called Dbl-homologous (DH) domain. It appears that PH domains invariably occur C-terminal to RhoGEF/DH domains.
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